Taylor Lab

Excited to share our latest preprint, led by @MitoMonika Rachel Guerra & @mitocollier in collaboration with the Wittig lab & @Pagliarini_Lab biorxiv.org/cgi/content/sh…

We’re moving! Our lab group feed is moving over to BlueSky for science updates, discussion, and all things mitochondrial! Follow us there to stay connected! 😊

Always a warm welcome from friends & colleagues @KFSHRC @KFSHRC_Research to share our wotk from @NCL_medscience @NewcastleHosps @NEYGenomics about #mito disease diagnostics

New article by Tang et al: COA5 has an essential role in the early stage of mitochondrial complex IV assembly @UniofNewcastle @taylorlabncl @yasmintangjx hubs.ly/Q031R4NV0

Absolutely over the moon to have passed my PhD viva last week! Thank you to my examiners for a great discussion @RyanLab_MBU and Jim Stewart and my fab supervisors @sarahjpickett, Ollie and Matt for their support over the last 4 years. Excited to see what the next chapter brings!

bit.ly/3We9B9n The mitochondrial protein COA5 was previously reported as a complex IV assembly factor. Studying a further case of COA5-related mitochondrial disease, the authors @UniofNewcastle @taylorlabncl @yasmintangjx delineate an essential role for this protein in…

Delighted to contribute to work with @GeneticBill and @ProkischLab and others in identifying DAP3 variants as a cause of #mito disease

📢We are hiring a #research coordinator to work on all things MitoCAMB and the @lifearc1 centre to treat #mito diseases. Rolling recruitment throughout Jan. Apply here: 👉 jobs.cam.ac.uk/job/48491/ 👈 @Jellevda @HorvathLab @4Lilyfoundation @RobPitceathly @taylorlabncl @MRC_MBU

@jwmdrc @TREAT_NMD @ICGNMD @taylorlabncl @mitoresearch @EastNeurology @HorvathLab @MRCMitoCluster @LondonMito @MRC_MBU @neuromusularOT @cnmdrehab @IonSynapse @ABNTrainees @bpns @cam_mito @mitomusclelab

This short animation (the final one!) explains why a genetic diagnosis of mitochondrial disease is important @ServiceOxford @LondonMito and @taylorlabncl 👨‍🔬 Click the link below for more info! ⬇️ ow.ly/fCw050UiPzB

Lovely to see many friends from across the #neuromuscular & #raredisease field -near and far!- here at the Baltic for the 10 year anniversary of the @jwmdrc! We're proudly celebrating our John Walton Centre, which is a cornerstone of our Newcastle Centre for Rare Disease🎉🥳

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal #MitochondrialDisease. 🗞️doi.org/10.1038/s44321… By @LindseyVanHaute & colleagues @mito_gene @taylorlabncl Read related highlight by C. Yu, @MarcoTigano & E. Seifert ➡️ doi.org/10.1038/s44321…

Excited to share our latest study led by @LindseyVanHaute out in @EmboMolMed. Pathogenic variants in PDE12 disrupt mitochondrial RNA processing lead to neonatal mitochondrial disease. Great collaboration with @taylorlabncl et al. Congrats! @MBU_postdocs embopress.org/doi/full/10.10…

Great to see this work finally out Lindsey! @yasmintangjx @MitoMonika @RDExeter @EllardSian @ExeterGenomes @NEYGenomics

"Equitable access to timely genomic testing for people affected by rare diseases is essential..." Our CEO @swynn_unique together with @EllardSian @RDExeter @taylorlabncl wrote for @PET_BioNews : progress.org.uk/rare-disease-g…

Up on stage is Prof Rob Taylor and Dr Emma Watson sharing more about genetic #MitochondrialDisease #RDNoE2024

How do YOU diagnose #mitochondrial disorders? The Australian Genomics Mitochondrial flagship explores genome/exome-first approach in 140 children and adults with suspected mitochondrial disorders bit.ly/3Uvo5AW @Mitochondriac_ @rociorius @thorburn_mito

Excited to share our @Nature paper introducing constraint metrics for #mtDNA! Constraint models are powerful tools that were missing for mtDNA—until now. By applying our model to #gnomAD, we reveal which sites in mtDNA are most crucial for health & disease nature.com/articles/s4158…

The Rare and Inherited Disease NHS Genomic Network of Excellence are holding an inaugural workshop event on Wednesday 6th November in London, where participants will learn more about the network and opportunities for involvement in their work.🧵

👉 Out now @NatureRevGenet: we CAN and we SHOULD do more to enable #genomic data sharing! 🧬🌏 👉Best practice examples and 12 actions we can all take together 👉 rdcu.be/dWfsu @GA4GH @AusGenomics @GenomicsEngland @NHSgms @AllofUsResearch @uk_biobank @ukfuturehealth

🚨 ⚠️ Essential insights for all! Dive into the latest recommendations on genomic testing for rare diseases in the UK & Ireland. An enlightening discussion for any country with a state-funded centralized healthcare systems. Click here 👉 bit.ly/4dyMbRQ 🌍 👥 @EllardSian…